Items tagged “syndrome”

274 results found
Article

Asphyxiating thoracic dysplasia

Asphyxiating thoracic dysplasia, also known as Jeune syndrome, is a type of rare short limb skeletal dysplasia, which is primarily characterized by a constricted long narrow thoracic cavity, cystic renal dysplasia and characteristic skeletal features. It is also sometimes classified as one of th...
Article

Freeman Sheldon syndrome

Freeman Sheldon syndrome (FSS), also known as distal arthrogryposis type IIa, is a congenital condition where multiple joint contractures are a key feature. Affected individuals are known to have a characteristic facial expression resembling that of a whistling face and hence the syndrome is als...
Article

Short rib polydactyly syndrome

Short rib polydactyly syndrome(s) (SRPS) comprise a rare group of severe osteochondrodysplasias. There are four major recognized types present: type I: Saldino-Noonan type type II:: Majewski type type III: Verma-Naumoff type type IV: Beemer-Langer type There may also be other very rare type...
Article

VACTERL-H association

The VACTERL-H association is a rare non-random association which bears the features of the standard VACTERL association with added fetal hydrocephalus. Unlike the standard VACTERL association which is sporadic, the VACTERL-H is hereditary with both X-linked 3 and autosomal recessive 2 inheritan...
Article

Herlyn-Werner-Wunderlich syndrome

Herlyn-Werner-Wunderlich (HWW) syndrome, is a rare anomaly characterized by Müllerian duct anomalies (MDA) associated with mesonephric duct anomalies 3. This entity is also known as obstructed hemivagina and ipsilateral renal anomaly (OHVIRA). It is not to be confused with the Wunderlich syndrom...
Article

Noonan syndrome with multiple lentigines

Noonan syndrome with multiple lentigines, previously known as LEOPARD syndrome (LS), is a rare autosomal dominant RASopathy that has many similarities to Noonan syndrome. Clinical presentation Despite a change in formal name, the 'LEOPARD' acronym is still useful to summarize the clinical feat...
Article

Fetal valproate syndrome

Fetal valproate syndrome (FVS) is a potential embryopathy that can occur as a result from maternal intake of valproic acid (sodium valproate) during pregnancy. Clinical presentation There is a wide clinical spectrum which includes neural tube defects intellectual disability craniofacial ano...
Article

Acrocephalosyndactyly

Acrocephalosyndactyly syndromes (ACS) are a rare group of disorders collectively characterized by: calvarial anomalies, e.g. craniosynostoses digital anomalies, e.g. syndactyly Classification While there can be some overlap in features, they can be primarily classified into the following maj...
Article

Acrocephalopolysyndactyly

Acrocephalopolysyndactyly (ACPS) syndrome is comprised of a rare group of disorders collectively characterized by: calvarial anomalies: e.g. craniosynostoses digital anomalies: syndactyly and polydactyly While there can be some overlap in features, they can be primarily classified into the fo...
Article

Pellegrini-Stieda syndrome

Pellegrini-Stieda syndrome refers to the presence of characteristic medial knee pain in the presence of previous medial collateral ligament injury and a Pellegrini-Stieda lesion (most of which are asymptomatic).  History and etymology It is named after Italian surgeon Augusto Pellegrini (1877-...
Article

Larsen syndrome

Larsen syndrome (LS) is an extremely rare disorder, often classified as a type of osteochondrodysplasia. Epidemiology The estimated incidence is thought to be at ~ 1 in 100,000 people. There may be an increased female predilection. Clinical presentation It is characterized by many features i...
Article

MURCS association

MURCS association refers to the combination of: MU: Müllerian duct aplasia R: renal aplasia /renal agenesis CS: cervicothoracic somite dysplasia See also Mayer-Rokitansky-Kuster-Hauser syndrome
Article

McKusick Kaufman syndrome

McKusick Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome primarily characterized by hydrometrocolpos - vaginal atresia post-axial polydactyly congenital heart disease
Article

Stickler syndrome

Stickler syndrome refers to a group of disorders primarily affecting connective tissue. Epidemiology Its incidence is 1 in 7500 live births 5. Clinical presentation Described features include: Ophthalmologic congenital or early-onset cataract congenital vitreous anomaly, rhegmatogenous re...
Article

Megacystis megaureter syndrome

Megacystis megaureter syndrome describes the radiologic appearance of a large capacity thin-walled bladder and massive primary vesicoureteral reflux. Pathology The pathophysiology of these massively dilated ureters and the large capacity bladder is the constant recycling of large volumes of r...
Article

Walker-Warburg syndrome

Walker-Warburg syndrome (WWS), sometimes known as HARDE syndrome, is an extremely rare lethal form of congenital muscular dystrophy. It is primarily characterized by: fetal hydrocephalus: almost always present neuronal migrational anomalies: agyria (cobblestone lissencephaly / lissencephaly ty...
Article

Oral-facial-digital syndromes

Oral-facial-digital syndromes (OFDS) are a group of rare genetic developmental disorder that affects the mouth, face, digits and also may cause some problems on the central nervous, kidney and the other organs. Classification Some publications have classified at least 13 forms of OFDS based on...
Article

Hydrolethalus syndrome

Hydrolethalus syndrome is a rare lethal genetic syndrome characterized by multiple developmental defects of the fetus which include: midline malformations cleft lip + / - palate CNS malformations fetal hydrocephalus agenesis of the corpus callosum Dandy-Walker malformation absent midline ...
Article

Thrombocytopenia with absent radius syndrome

Thrombocytopenia with absent radius (TAR) syndrome is primarily characterized by the following two features: fetal thrombocytopenia absent fetal radii (bilaterally) with the presence of both thumbs Epidemiology The condition is extremely rare with an estimated incidence of 0.4 per 100,000 bi...
Article

Russell-Silver dwarfism

Russell-Silver dwarfism is a very rare syndrome representing a form of primordial dwarfism. Epidemiology Associations single umbilical artery Clinical presentation intrauterine growth restriction: tends to give an asymmetrical IUGR postnatal growth restriction relatively large calvarium: ...